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[Kenny-Caffey syndrome and its related syndromes].
Isojima T, Kitanaka S. Isojima T, et al. Nihon Rinsho. 2015 Nov;73(11):1959-64. Nihon Rinsho. 2015. PMID: 26619675 Review. Japanese.
Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Tw
Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortic
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Courtens W, et al. Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. Am J Med Genet A. 2006. PMID: 16470743 Review.
Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, …
Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive ( …